Canonical Allele Identifier: CA512662949
Gene: RIPK4 HGNC NCBI

Linked Data

dbSNP Id: rs1218763992
gnomAD v2: 21-43161505-G-A
gnomAD v4: 21-41741345-G-A
MyVariant Identifiers: chr21:g.43161505G>A (hg19) chr21:g.41741345G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.41741345G>A , CM000683.2:g.41741345G>A GRCh38
NC_000021.8:g.43161505G>A , CM000683.1:g.43161505G>A GRCh37
NC_000021.7:g.42034574G>A NCBI36
NG_032113.1:g.30745C>T
NG_032113.2:g.30745C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000332512.8:c.1848C>T MANE Select ENSP00000332454.3:p.His616=
ENST00000332512.7:c.1848C>T ENSP00000332454.3:p.His616=
ENST00000352483.3:c.1992C>T ENSP00000330161.2:p.His664=
NM_020639.2:c.1848C>T NP_065690.2:p.His616=
NM_020639.3:c.1848C>T MANE Select NP_065690.2:p.His616=
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